TMC8

Last updated
TMC8
Identifiers
Aliases TMC8 , EV2, EVER2, EVIN2, transmembrane channel like 8
External IDs OMIM: 605829; MGI: 2669037; HomoloGene: 45126; GeneCards: TMC8; OMA:TMC8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152468

NM_001195088
NM_001195089
NM_001195090
NM_181856

RefSeq (protein)

NP_689681

NP_001182017
NP_001182018
NP_001182019
NP_862904

Location (UCSC) Chr 17: 78.13 – 78.14 Mb Chr 11: 117.67 – 117.68 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane channel-like protein 8 is a protein which in humans is encoded by the TMC8 gene. [5] [6]

Contents

Function

The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [6]

Clinical significance

Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. [6]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000167895 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000050106 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis" (PDF). Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID   12426567. S2CID   20013445.[ permanent dead link ]
  6. 1 2 3 "Entrez Gene: TMC8 transmembrane channel-like 8".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.